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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TBCK - TBC1 Domain Containing Kinase
Alias:
TBCKL
IHPRF3
HSPC302
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含蛋白激酶结构域、Rhodanase样结构域和Tre-2/Bub2/Cdc16(TBC)结构域的蛋白质。该编码的蛋白质被认为通过调节雷帕霉素(rapamycin)的哺乳动物靶点(mTOR)信号通路,在肌动蛋白组织、细胞生长和细胞增殖中发挥作用。这个蛋白质可能也参与mTOR复合物的组分的转录调控。可选的剪接导致多个转录变异体。[由RefSeq,2014年3月提供]
Related ID:
NCBI:93627
ENSEMBL:ENSG00000145348
HGNC:28261
UNIPROT:Q8TEA7
OMIM:616899
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
93627
17
26
275085 bp
100.68
673
3
3
12
TBCK Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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No data available
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CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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